Efemp2 - epidermal growth factor-containing fibulin-like extracellular matrix protein 2 Gene

Also Known as MBP1; Fbln4; 0610011K11Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 58859

Summary

Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development. Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Apr 2022]

Efemp2 Products (3)

mRNA	Protein	Name
NM_001164352.1	NP_001157824.1	EGF-containing fibulin-like extracellular matrix protein 2 isoform 2 precursor
NM_001374680.1	NP_001361609.1	EGF-containing fibulin-like extracellular matrix protein 2 isoform 3 precursor
NM_021474.3	NP_067449.3	EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16478991	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in aorta development	IMP IMP: Inferred from mutant phenotype	20019329	MGI
involved in aorta smooth muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	26178373	MGI
acts upstream of or within artery development	IMP IMP: Inferred from mutant phenotype	19855011	MGI
acts upstream of or within elastic fiber assembly	IMP IMP: Inferred from mutant phenotype	19855011	MGI
involved in elastic fiber assembly	IMP IMP: Inferred from mutant phenotype	16478991	MGI
involved in negative regulation of vascular associated smooth muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	23636094	MGI
involved in positive regulation of aortic smooth muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	20019329	MGI
involved in positive regulation of collagen fibril organization	IMP IMP: Inferred from mutant phenotype	26178373	MGI
involved in regulation of collagen fibril organization	IMP IMP: Inferred from mutant phenotype	26690653	MGI
involved in vascular associated smooth muscle cell development	IMP IMP: Inferred from mutant phenotype	23636094	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	17324935	MGI
located in elastic fiber	IMP IMP: Inferred from mutant phenotype	16478991	MGI
located in extracellular matrix	IDA IDA: Inferred from direct assay	17324935	MGI
located in microfibril	IDA IDA: Inferred from direct assay	17324935	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
EGF-containing fibulin-like extracellular matrix protein 2	EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2) FIBL-4 fibulin-4 mutant p53-binding protein 1

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04186	EFEMP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21849	Efemp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Efemp2	NCBI	NCBI:30008